Distribution and transmission of copy number variations of uncertain significance in 105 trios
Abstract Background The distribution and genetic characteristics of copy number variations (CNVs) remain unclear. Here, we investigated the distribution and transmission of CNVs of uncertain significance in fetuses. Methods Low‐coverage massively parallels CNV sequencing of 105 families (parents and...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-09-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.2030 |
| _version_ | 1798000722268127232 |
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| author | Qiang Wen Xiu Wang Hao Zhang Xiaoyan Liu Zhihong Xu |
| author_facet | Qiang Wen Xiu Wang Hao Zhang Xiaoyan Liu Zhihong Xu |
| author_sort | Qiang Wen |
| collection | DOAJ |
| description | Abstract Background The distribution and genetic characteristics of copy number variations (CNVs) remain unclear. Here, we investigated the distribution and transmission of CNVs of uncertain significance in fetuses. Methods Low‐coverage massively parallels CNV sequencing of 105 families (parents and their fetuses) was performed to identify fetal CNVs of uncertain significance. Results In the 105 fetuses, 176 CNVs of uncertain significance were detected, and the average number of CNVs carried by fetuses was 1.68 ± 0.80. Among the CNVs carried by the fetuses, 79.8% were inherited (~90.0% of the fetuses) and 20.2% were new mutations (~30.0% of the fetuses). We found that 58.9% CNVs were of maternal origin and 41.1% were of paternal origin. Among the CNV subtypes, de novo CNV distribution was significantly different from inherited CNV distribution. There was no difference in the distribution of maternal and paternal CNV subtypes in the fetuses. The proportion of microdeletions (36.7%) and microduplications (63.3%) was similar in the fetuses and parents. Furthermore, we found that when parents carried more CNVs of uncertain significance, the chance of passing them on to their offspring decreased. Conclusion This study deepens our understanding of the genetic mechanisms associated with CNV transmission to assist clinicians in prenatal counseling. |
| first_indexed | 2024-04-11T11:24:54Z |
| format | Article |
| id | doaj.art-8f5b737ee49f47388e448f909294ebc3 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-04-11T11:24:54Z |
| publishDate | 2022-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-8f5b737ee49f47388e448f909294ebc32022-12-22T04:26:19ZengWileyMolecular Genetics & Genomic Medicine2324-92692022-09-01109n/an/a10.1002/mgg3.2030Distribution and transmission of copy number variations of uncertain significance in 105 triosQiang Wen0Xiu Wang1Hao Zhang2Xiaoyan Liu3Zhihong Xu4Department of Reproductive Genetics Deyang People's Hospital Deyang ChinaDepartment of Reproductive Genetics Deyang People's Hospital Deyang ChinaDepartment of Reproductive Genetics Deyang People's Hospital Deyang ChinaDepartment of Reproductive Genetics Deyang People's Hospital Deyang ChinaDepartment of Reproductive Genetics Deyang People's Hospital Deyang ChinaAbstract Background The distribution and genetic characteristics of copy number variations (CNVs) remain unclear. Here, we investigated the distribution and transmission of CNVs of uncertain significance in fetuses. Methods Low‐coverage massively parallels CNV sequencing of 105 families (parents and their fetuses) was performed to identify fetal CNVs of uncertain significance. Results In the 105 fetuses, 176 CNVs of uncertain significance were detected, and the average number of CNVs carried by fetuses was 1.68 ± 0.80. Among the CNVs carried by the fetuses, 79.8% were inherited (~90.0% of the fetuses) and 20.2% were new mutations (~30.0% of the fetuses). We found that 58.9% CNVs were of maternal origin and 41.1% were of paternal origin. Among the CNV subtypes, de novo CNV distribution was significantly different from inherited CNV distribution. There was no difference in the distribution of maternal and paternal CNV subtypes in the fetuses. The proportion of microdeletions (36.7%) and microduplications (63.3%) was similar in the fetuses and parents. Furthermore, we found that when parents carried more CNVs of uncertain significance, the chance of passing them on to their offspring decreased. Conclusion This study deepens our understanding of the genetic mechanisms associated with CNV transmission to assist clinicians in prenatal counseling.https://doi.org/10.1002/mgg3.2030copy number variationCNVs of uncertain significancedistributionheredityprenatal counseling |
| spellingShingle | Qiang Wen Xiu Wang Hao Zhang Xiaoyan Liu Zhihong Xu Distribution and transmission of copy number variations of uncertain significance in 105 trios Molecular Genetics & Genomic Medicine copy number variation CNVs of uncertain significance distribution heredity prenatal counseling |
| title | Distribution and transmission of copy number variations of uncertain significance in 105 trios |
| title_full | Distribution and transmission of copy number variations of uncertain significance in 105 trios |
| title_fullStr | Distribution and transmission of copy number variations of uncertain significance in 105 trios |
| title_full_unstemmed | Distribution and transmission of copy number variations of uncertain significance in 105 trios |
| title_short | Distribution and transmission of copy number variations of uncertain significance in 105 trios |
| title_sort | distribution and transmission of copy number variations of uncertain significance in 105 trios |
| topic | copy number variation CNVs of uncertain significance distribution heredity prenatal counseling |
| url | https://doi.org/10.1002/mgg3.2030 |
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